MUTYH Chromosome 1
MutY DNA glycosylase
Upload your DNA to see your personal genotypes for variants in MUTYH.
What This Gene Does
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
DNA glycosylases
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000132781
Associated Conditions (62)
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Gastric cancer
MUTYH-related disorder
MUTYH-related Breast Cancer
Hereditary cancer
Familial colorectal cancer type X
Pilocytic astrocytoma
Neoplasm of stomach
Pilomatrixoma
Breast carcinoma
Carcinoma of colon
Diffuse midline glioma
H3 K27-altered
Anaplastic/large cell medulloblastoma
Neoplasm
See cases
Thyroid cancer
nonmedullary
1
+42 more conditions
Key Variants
RS1003387951
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1057517460
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Gastric cancer
Health Risk
RS1057520831
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057524506
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, MUTYH-related disorder
Health Risk
RS1060501323
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501325
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501326
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501327
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501328
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501329
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501330
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
RS1060501338
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
Health Risk
All Variants (862)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS876660488 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS876660539 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS876660615 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS876660697 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS876660715 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hepatocellular carcinoma |
| RS876660791 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS876660804 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS878854187 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X |
| RS878854188 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS878854190 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS878854195 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS879254257 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS886046365 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS886046366 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS890418965 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS932830392 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Gastric cancer |
| RS937766053 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS943979644 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS946755892 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS950856923 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS966143902 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS984795084 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1057517459 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1057520660 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1060501333 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1064793198 | Health Risk | Likely pathogenic | — |
| RS1218453896 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1309501452 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1315680518 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1361763237 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1383826978 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS1423002555 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1427656678 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS149866955 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, MUTYH-related disorder |
| RS1553123017 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1553125100 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1553125766 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1553125914 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Neoplasm of stomach, Familial adenomatous polyposis 2 |
| RS1553126007 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1553126320 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553128663 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1553128712 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553128929 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553129521 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1553130042 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1553136984 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Gastric cancer |
| RS1557472384 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1557474906 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Familial adenomatous polyposis 2 |
| RS1557481282 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1570346782 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |